Results 21 to 30 of about 712,216 (162)

Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2‐negative individuals who had genetic testing in a large urban comprehensive cancer center

Cancer Medicine, 2022
Background There is sparse clinical information on the racial and ethnic distribution of results of multigene panel testing among individuals at high risk for hereditary cancer.
Sushma Tatineni, Meri Tarockoff, Nadine Abdallah, Kristen S. Purrington, Hadeel Assad, Rachel Reagle, Nancie Petrucelli, Michael S. Simon   +7 more
doaj   +1 more source

A Case-Based Active Learning Session for Medical Genetics Resources

MedEdPORTAL, 2021
Introduction As the clinical applications of medical genetics and genomics continue to expand, nongenetics professionals increasingly find themselves in the position of managing patients with genetic conditions. To prepare medical students to handle this
Hana Anderson, Amy C. Studer, Katharine N. Holm, Ayaka Suzuki   +3 more
doaj   +1 more source

Medical Genetics in Paraguay

Public Health Genomics, 2004
Paraguay is a developing country with low levels of health coverage, with 81% of the population without health insurance, a proportion that reaches 98.1% among the poor, 93% among the rural population and 91.7% among the mainly Guarani-speaking population. The infant mortality rate is 19.4 per 1,000, although there is gross under-reporting.
openaire   +2 more sources

Exploration of strengthening the cultivation of ethical quality in the construction of medical genetics course [PDF]

Jichu yixue yu linchuang, 2020
With the completion of the human genome project and the advancement of sequencing technology, the ethical issues involved in medical genetics have become increasingly prominent. This requires the integration of ethical and other ideological elements into
MI Ya-jing, ZHANG Ni, FENG Hao, LIU Jie, GOU Xing-chun, JING Xiao-hong
doaj  

Management of biobanking for medical genetics research

Кардиоваскулярная терапия и профилактика, 2022
Biobanking is one of the most important elements of the modern infrastructure for biomedical research. Organization of a biobank on the basis of the N. P.
V. Yu. Tabakov
doaj   +1 more source

The Design and Consideration of Medical Genetics Training Courses for Clinical Physicians Specializing in Rare Diseases

罕见病研究
The diagnosis and treatment of rare diseases have long been significant challenges in the medical practice. With the rapid development of genomics and genetics, medical genetics has been widely applied in the diagnosis and treatment of rare diseases ...
LIU Yaping, SHEN Min, ZHANG Shuyang
doaj   +1 more source

Cardiomyopathies associated with the DES gene mutations: molecular pathogenesis and gene therapy approaches

Alʹmanah Kliničeskoj Mediciny, 2019
Cardiomyopathy (CMP) is a common group of cardiovascular disorders. Genetic (primary) cardiomyopathies are related to abnormalities in more than 100 genes, including the DES gene encoding desmin protein.
K. S. Kochergin-Nikitsky, E. V. Zaklyazminskaya, A. V. Lavrov, S. A. Smirnikhina   +3 more
doaj   +1 more source

Medical Genetics in Peru

Public Health Genomics, 2004
Peru has a growing population characterized by notorious socioeconomic differences. The main health problems are acquired diseases related to sanitary conditions that affect mainly the large segment afflicted by poverty and extreme poverty. The state’s health policy does not contemplate any action on congenital or genetic conditions, and genetic ...
openaire   +2 more sources

Human genetics education in Ecuadorian medical schools compared to the United States: a cross-sectional study

Discover Education
Background With significant advances in medical genetics understanding and practice, primary care providers are being increasingly called on to incorporate genetic testing and interpretation into their practices.
Badí I. Quinteros Espinoza, Priscila D. Hodges, Verónica Abraham, Daniela Diaz Caro, María I. Espinoza, Jeffrey B. Quinteros, Juan A. Arroyo, Elizabeth Gibbons Bailey   +7 more
doaj   +1 more source

Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

eLife, 2017
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that
Gillian Morven Belbin, Jacqueline Odgis, Elena P Sorokin, Muh-Ching Yee, Sumita Kohli, Benjamin S Glicksberg, Christopher R Gignoux, Genevieve L Wojcik, Tielman Van Vleck, Janina M Jeff, Michael Linderman, Claudia Schurmann, Douglas Ruderfer, Xiaoqiang Cai, Amanda Merkelson, Anne E Justice, Kristin L Young, Misa Graff, Kari E North, Ulrike Peters, Regina James, Lucia Hindorff, Ruth Kornreich, Lisa Edelmann, Omri Gottesman, Eli EA Stahl, Judy H Cho, Ruth JF Loos, Erwin P Bottinger, Girish N Nadkarni, Noura S Abul-Husn, Eimear E Kenny   +31 more
doaj   +1 more source